SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: WAARDENBURG SYNDROME, TYPE IIA ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555937398
rs1555937398 		1.000 0.040 22 37973805 frameshift variant T/- del
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs1555938422
rs1555938422 		1.000 0.040 22 37978134 frameshift variant G/- del
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs1555939415
rs1555939415 		1.000 0.040 22 37983382 missense variant T/G snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs1555939564
rs1555939564 		1.000 0.040 22 37983723 frameshift variant CTCCGAGCCCACGGGGCTC/- delins
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018